Is ATRIP p.Glu787Arg (c.2359_2360delinsAG) pathogenic?

ATRIP p.Glu787Arg (c.23592360delinsAG) is classified Uncertain significance in ATRIP (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-03-21). Absent from gnomAD.

How common is ATRIP p.Glu787Arg (c.2359_2360delinsAG) in the general population?

ATRIP p.Glu787Arg (c.2359_2360delinsAG) is absent from gnomAD (gnomAD).

ATRIP p.Glu787Arg

c.2359_2360delinsAG · rs2530021360 · VCV2985261

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.5, phastCons 1
Regional constraint	o/e 0.95	unconstrained · MANE · 19 kb · p 0.089 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ATRIP
Protein: p.Glu787Arg
Coding: c.2359_2360delinsAG
MANE Select: NM_130384
dbSNP: rs2530021360
Type: Indel
Location: chr3:48465537 (GRCh38)
Gene constraint: LOEUF 0.707 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 70.10 · 24 PDB

Full ATRIP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ATRIP p.Glu787Lys Uncertain significance ★★ ⚠ same residue
ATRIP p.Glu787Asp Uncertain significance ★ ⚠ same residue
ATRIP p.Glu787Gly Uncertain significance ★ ⚠ same residue
ATRIP p.Glu787= Likely benign ★ same residue
ATRIP p.Pro409Leu Uncertain significance ★★ same type
TREX1 p.Arg174_Lys175delinsSerTer Pathogenic ★ same type
ATRIP p.Leu538_Met541delinsGln Uncertain significance ★ same type
ATRIP p.Leu609Gln Uncertain significance ★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/atrip-p-glu787arg (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown